closely resemble the clinical presentation of some osteochondrodysplasias or genetic skeletal dysplsias. In that, both conditions can present with swollen, stiff and deformed joints. Treatment Emerging therapies for genetic skeletal dysplasias include enzyme replacement therapy, hematopoietic stem cell transplantation and gene therapy. These therapies aim at preventing disease progression and thus improving quality of life. Examples of the use of enzyme replacement therapy are Mucopolysaccharidoses and Gaucher disease. Results have shown effectivity of enzyme replacement therapy. In some instances as malignant infantile osteopetrosis, hematopoietic stem cell transplantation can be life-saving. References External links Skeletal disorders Rare diseases